以呼吸衰竭为首发表现的成人线粒体肌病1例报告并文献复习

Respiratory failure as the presenting manifestation of adult-onset mitochondrial myopathy: 1 case report with literature review

目的探讨线粒体肌病并发呼吸衰竭的发病机制和临床特点。方法报告1例以呼吸衰竭为首发表现的成年线粒体肌病患者的临床资料,并复习相关文献。结果患者临床表现为胸闷;血清肌酶谱检查:肌酸激酶(CK)208U/L,乳酸脱氢酶(LDH)546U/L,天冬氨酸氨基转移酶(AST)50U/L;血气分析提示Ⅱ型呼吸衰竭,肺功能存在限制性通气功能障碍,肌电图提示肌源性损害。肌肉病理发现组织中散在典型的不整红边纤维,电镜下见线粒体内存在晶格状包涵体。结论线粒体肌病可以单纯累及呼吸肌,因通气功能障碍而导致呼吸衰竭。成年人可以慢性呼吸衰竭为线粒体肌病的首发表现。

Objective To investigate the pathogenesis and clinical features of mitochondrial myopathy induced respiratory failure. Methods We report the clinical data of a case with respiratory failure as the presenting manifestation of adult-onset mitochondrial myopathy and reviewed the related literature. Results Chest tightness was the main clinical feature of the patient. Laboratory and auxiliary examination abnormalities included elevated serum muscle enzymes, type II respiratory failure and restrictive ventilation dysfunction. Electromyography examination showed myogenic changes. The pathological features of biopsy showed the typical ragged red fibers （RRF）, and mitocbondrial intracristal inclusion bodies were observed by electron microscope. Conclusions Respiratory muscle can be the only involved muscles in mitochondrial myopathy, which may lead to respiratory failure due to restrictive ventilation dysfunction. These observations document chronic respiratory failure can be the presentation of adult-onset mitochondrial myopathy.